MARFAN (MFS1) SYNDROME (FBN1) TYPE I SEQUENCING

General Information

Logistics

Test Indications:

Fibrillin-1 is the major structural component of the microfibrils that link together the various extracellular matrix components in most connective tissues, thus providing support for the organs. Microfibrils can also associate with elastin, forming elastic fibers that provide resilience and elasticity in tissues. Defects in the FBN1 gene compromise the fibrillin-1 function in these tissues and therefore, result in connective tissue weakness as seen in Marfan syndrome.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

Connective Tissue Gene Tests (CTGT)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

24 hours

Turnaround Time:

2 to 3 months

Special Instructions:

No transfusion within the past 30 days. Please include a completed CTGT Request form with the patient or specimen to the laboratory.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

9 mL (Minimum: 4 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture, mix specimen by gentle inversion

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should be sent in original collection container. Send via overnight shipping with a cold pack to reach CTGT Monday through Friday. If weekend or holiday when drawn, store at refrigerated temperatures.

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